Yusef turned one this past week. It’s been an extremely emotional time for me and I admit I’ve been depressed to the point of tears at times. I sometimes feel that I only post negative things on this blog, a fact that I hate. I also want to be an advocate for individuals with Down syndrome and I never want anyone visiting this blog to get the wrong idea. I don’t want to propogate the stereotype of children with DS suffering or their families being paralyzed with grief and medical issues. At the same time, I can’t just write out a lie.
This year has been difficult. However, much of the difficulties have had nothing to do with Ds, but rather his debilitating form of epilepsy called infantile spasms that have wreaked havoc on my every waking hour for the last eight months.
Children with Down syndrome no more likely to suffer from seizures than their typical peers. However, for those children that do have a seizure disorder, the likelihood of infantile spams being the type of epilepic disorder is much higher in children with DS than in the general population. Indeed, one of the risk factors for infantile spasms is chromosomal abnormalities.
The information out there on the internet regarding infantile spasms is incredibly scary and depressing. They are very difficult seizures to control and many of the articles will say that the prognosis is poor with this type of epilepsy. This means that most cases are intractable to current medicines and treatments and most children will have permanent developmental and cognitive delays. Of course, then I have to factor in Down syndrome, and well, I just feel bleak about my child's future and level of functioning he will be able to obtain.
While we have seen a reduction in seizure activity after our course of ACTH, and an increase in development, my Yusef has not had anywhere close to a total halt to these seizures. It’s very common to see him have at least a couple “spasms” i.e. seizures every day. Usually with no warning. If he happens to be sitting up in his excersaucer, he’ll have what is called a head drop meaning he loses all control of the muscles in his head and trunk and he’ll literally do a face plant on top of his tray and any toys that might be sitting there. This is, to say the least, traumatic to everyone involved.
My son is extremely delayed at this point. At one year old I see other babies with DS sitting, creeping, some even crawling, starting to talk or sign. Yusef is nowhere near sitting. He still doesn’t seem to socialize and smile as much as I would like to see. He’s only recently started rolling around consistently. I know people will say he’ll reach his milestones in his own time, but this is ridiculous. And so now I’m angry.
I’m angry at the neurologist for not being nearly aggressive enough with this. He just seems to blow everything off and want to continue the current treatment plan that we’re on which is not working! He is taking a wait and see approach and this is my child’s life, his future we’re talking about.
So my husband and I have talked about taking him to somewhere out of community to get another opinion, perhaps to Kansas City. As it turns out there is a second, brand new, pediatric neurologist in our community now! Our primary care pedi is in the process of setting up an appointment with him now and I should hear from them tomorrow.
There is still some hope. There are a couple different options that are promising. One is a med called Vigabatrin and the other is the ketogenic diet. Neither of which has our neurologist even mentioned. Not once. It took 5 months for him to even be on board with the ACTH which is a first line treatment, the gold standard really. I am done with this guy.
I’m pissed at myself for letting things go on for this long. I just kept thinking it would get better. The Zonegram helped which gave me hope. The ACTH helped quite a bit more which gave me more hope. But neither are enough. I want these seizures gone. Completely. And if I can’t have that, then at least I want the peace of mind in knowing that I did absolutely everything possible and that it is simply out of my hands.